Argininosuccinate synthase 1 mRNA (ASS1 mRNA) (ASS1 mRNA)

Argininosuccinate synthase 1 (ASS1) mRNA is the transcript encoding the ASS1 enzyme, a critical component of the urea cycle and the arginine biosynthetic pathway (UniProt P00966). The ASS1 enzyme catalyzes the conversion of citrulline and aspartate into argininosuccinate, a key step in the detoxification of nitrogenous waste and the production of arginine (NCBI Gene ID: 445). Deficiencies in this enzyme, caused by mutations in the ASS1 gene, result in Citrullinemia Type I (CTLN1), a metabolic disorder characterized by the toxic accumulation of ammonia in the blood (PubMed: 32661328). As a therapeutic target, ASS1 mRNA is utilized in mRNA replacement therapies, such as ARCT-810, which deliver functional copies of the transcript to the liver using lipid nanoparticles (Arcturus Therapeutics, 2023). This strategy aims to restore enzymatic activity, thereby reducing systemic ammonia levels and preventing metabolic crises. Beyond metabolic disorders, the loss of ASS1 expression in certain tumors leads to arginine auxotrophy, making these cancers susceptible to arginine-depleting agents, although mRNA-based restoration is primarily investigated for genetic deficiency.

Other names

Argininosuccinate synthetase 1 mRNAASS mRNACitrulline--aspartate ligase mRNA

mRNA replacement therapy to restore functional argininosuccinate synthase 1 enzyme activity